IllnessSynspondylism

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Synspondylism

SS0891

Number of genes

1 Accredited laboratory test

Examined sequence length

7,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
FLNB	7809	603381	AD, AR

Informations about the disease

Clinical Comment

Spondylodysplasic dysplasia with postnatal progressive vertebral fusions (block vertebrae), shortened trunk, disproportionate short stature, scoliosis, lordosis, carpal + tarsal synostosis (club feet)

Synonyms

Alias: Spondylo-karpo-tarsale Synostose
Alias: Spondylocarpotarsal syndrome
Allelic: Atelosteogenesis, type I + III (FLNB)
Allelic: Boomerang dysplasia
Allelic: Larsen syndrome
Spondylocarpotarsal synostosis (syndrome)

Heredity, heredity patterns etc.

OMIM-Ps

603381

ICD10 Code

Q76.4

Bioinformatics and clinical interpretation

No text defined